About: Homocystinuria

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Homocystinuria
rdfs:subClassOf	Rare Non-Neoplastic Disorder Amino Acid Metabolism, Inborn Errors
Has_NICHD_Parent	Amino Acid Metabolism, Inborn Errors
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Homocystinuria
UMLS_CUI	C0019880
Contributing_Source	NICHD
FULL_SYN	HomocystinuriaPTNCI HomocystinuriaPTNICHD
DEFINITION	An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.NCI
code	C84765
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0010516
is rdfs:subClassOf of	Hyperhomocysteinemia
is sameAs of	Homocystinuria

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